Canonical Allele Identifier: CA913190650
Community Standard Title: NM_004239.4(TRIP11):c.2128_2129del (p.Ile710CysfsTer19)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92005848_92005849del , CM000676.2:g.92005848_92005849del GRCh38
NC_000014.8:g.92472192_92472193del , CM000676.1:g.92472192_92472193del GRCh37
NC_000014.7:g.91541945_91541946del NCBI36
NG_016970.1:g.39212_39213del

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.2128_2129del MANE Select NP_004230.2:p.Ile710CysfsTer19
ENST00000267622.8:c.2128_2129del MANE Select ENSP00000267622.4:p.Ile710CysfsTer19
NM_001321851.1:c.2125_2126del NP_001308780.1:p.Ile709CysfsTer19
NM_004239.3:c.2128_2129del NP_004230.2:p.Ile710CysfsTer19
ENST00000554357.5:c.1274_1275del
XM_005268214.2:c.802_803del XP_005268271.1:p.Ile268CysfsTer19
XM_005268215.2:c.1527+1792_1527+1793del XP_005268272.1:n.1527+1792_1527+1793del
XM_006720321.2:c.2125_2126del XP_006720384.1:p.Ile709CysfsTer19
XM_011537361.1:c.2128_2129del XP_011535663.1:p.Ile710CysfsTer19
XM_017021787.2:c.1423_1424del XP_016877276.1:p.Ile475CysfsTer19
XM_017021788.2:c.802_803del XP_016877277.1:p.Ile268CysfsTer19
XR_001750598.2:n.2577_2578del
XR_943560.1:n.2583_2584del
XR_943560.2:n.2577_2578del